西ベラルーシの乳癌および卵巣がんファミリーのBRCA　１　遺伝子の創始者変異

Title: Founder mutations in the BRCA1 gene in west Belarusian breast-ovarian cancer families

Author: O Oszurek, B Gorski, J Gronwald, Z Prosolow, K Uglanica, A Murinow, I Bobko, O Downar, M Zlobicz, D Norik, T Byrski, A Jakubowska, J Lubinski

Reference: Clinical Genetics, Volume 60, Issue 6, pages 470–471, December 2001

DOI: 10.1034/j.1399-0004.2001.600611.x

Keywords:BRCA1, Belarus, breast cancer, ovarian cancer

Abstract: Germline mutation at eight human minisatellite loci has been studied among families from rural areas of the Kiev and Zhitomir regions of Ukraine, which were heavily contaminated by radionuclides after the Chernobyl accident. The control and exposed groups were composed of families containing children conceived before and after the Chernobyl accident, respectively. The groups were matched by ethnicity, maternal age, parental occupation, and smoking habits, and they differed only slightly by paternal age. A statistically significant 1.6-fold increase in mutation rate was found in the germline of exposed fathers, whereas the maternal germline mutation rate in the exposed families was not elevated. These data, together with the results of our previous analysis of the exposed families from Belarus, suggest that the elevated minisatellite mutation rate can be attributed to post-Chernobyl radioactive exposure. The mechanisms of mutation induction at human minisatellite loci are discussed.

URL: http://onlinelibrary.wiley.com/doi/10.1034/j.1399-0004.2001.600611.x/abstract

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